Investigating immune dysfunction in SBMA and its role in driving pathogenesis within the skeletal muscle
Summary Description
The polyQ-expanded androgen receptor (AR) seen in Kennedy’s Disease (KD) severely impacts the skeletal muscle of patients, and specifically leads to severe metabolic dysfunction and cell death within the affected muscle. Along with muscle cells, immune cells are also found within the skeletal muscle where they play an integral role in repairing damaged muscle. Immune cells respond to damage-associated signals – including those downstream of metabolic and mitochondrial stress – in order to initiate their reparative functions, however aberrant immune responses will instead lead to chronic inflammation and fibrosis. Importantly, the role that the immune system plays in the progression of KD is not well understood. This study therefore aims to investigate the role of the immune system in the pathogenesis of KD. We will first utilize mouse models of KD to evaluate the phenotypic and functional changes that occur within immune cell populations throughout disease progression. We will then investigate how these immune cells contribute to KD-driven pathology through cell-depletion studies. The data from this research will provide novel and important information that will help us better understand the mechanisms that contribute to KD pathogenesis. Additionally, these data will have the potential to be used as rationale for development of novel therapeutics for patients.
Bio
Dr. Ellen Scott joined the Montie Lab and Philadelphia College of Osteopathic Medicine as a postdoctoral fellow at the beginning of 2025. Her research leverages her immunological expertise in order to better understand the function of immune cells and immune-related proteins in Kennedy’s Disease (KD/SBMA). Prior to joining the Montie Lab, Ellen completed her PhD in Microbiology and Immunology at the University of Pittsburgh. Under the mentorship of Dr. Dario Vignali, Ellen’s thesis work focused on cytokine biology and the impact of cytokine signaling on tumor-infiltrating regulatory T cell function.
